PALB2是抑癌基因，编码蛋白（BRCA2的配偶体和定位剂，也称FANCN）是DNA修复因子和BRCA2结合蛋白。PALB2在同源重组（HR）通路中充当支架蛋白，用于修复双链DNA断裂，可能介导BRCA2和RAD51在受损位点上的募集。PALB2也与BRCA1相互作用，可能在HR通路中充当BRCA1和BRCA2之间的中介因子。临床前数据表明，BRCA1和BRCA2的突变可能失去与PALB2的相互作用，并破坏HR介导的DNA修复。PALB2的胚系突变与遗传性范可尼贫血有关，并易患乳腺癌。PALB2在卵巢癌、胰腺癌、前列腺癌和黑色素瘤中的作用较小，虽然发生频率罕见，但是PALB2有害的体细胞变异在各种类型肿瘤可观察到。

PALB2 is a component of the Fanconi anemia complementation (FANCC) group involved in DNA double-strand break repair. Germline mutations of PALB2 are associated with Fanconi anemia and predispose to breast cancer. PALB2 (Partner and localizer of BRCA2, also known as FANCN) encodes a DNA-repair factor and BRCA2 binding protein. PALB2 acts as a scaffold protein in the homologous recombination (HR) pathway for the repair of double-stranded DNA breaks, likely mediating recruitment of BRCA2 and RAD51 at damaged loci. PALB2 also interacts with BRCA1, possibly functioning as an intermediary factor between BRCA1 and BRCA2 in the HR pathway. Preclinical data show that mutations in BRCA1 and BRCA2 can abrogate interaction with PALB2 and disrupt HR-mediated DNA repair. Germline biallelic mutations of PALB2 are linked to the hereditary disease Fanconi Anemia, which predisposes to various cancers. PALB2 is a breast cancer susceptibility gene with some indications for a lesser effect in ovarian, pancreatic, prostate cancer and melanoma. Although rare, deleterious somatic variants in PALB2 are observed across various tumor types.

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